COL6A2

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Collagen, type VI, alpha 2
Identifiers
Symbols COL6A2 ; PP3610
External IDs OMIM120240 MGI88460 HomoloGene1392 GeneCards: COL6A2 Gene
RNA expression pattern
PBB GE COL6A2 209156 s at tn.png
PBB GE COL6A2 213290 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1292 12834
Ensembl ENSG00000142173 ENSMUSG00000020241
UniProt P12110 Q02788
RefSeq (mRNA) NM_001849 NM_146007
RefSeq (protein) NP_001840 NP_666119
Location (UCSC) Chr 21:
47.52 – 47.55 Mb
Chr 10:
76.6 – 76.62 Mb
PubMed search [1] [2]

Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.[1]

Function[edit]

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.[1]

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